نتایج جستجو برای: shprintzen syndrome
تعداد نتایج: 621913 فیلتر نتایج به سال:
OBJECTIVE To report our experience with cephalometry in evaluating velopharyngeal dysfunction (VPD) in velocardiofacial syndrome (VCFS) and its utility in assessing the role of cervical spine abnormalities in VPD, prior to surgical correction of VPD. DESIGN Clinical charts and cephalometric radiographs done prior to surgery for VPD were retrospectively analyzed to ascertain velopharyngeal mea...
BACKGROUND AND PURPOSE PV is increasingly used as treatment for osteoporotic VCFs. However, controversy exists as to whether PV increases the risk for new VCFs during follow-up. The purpose of our research was to assess the incidence of new VCFs in patients with acute VCFs randomized to PV and conservative therapy. MATERIALS AND METHODS VERTOS II is a prospective multicenter randomized contro...
BACKGROUND Genetic testing in psychiatry promises to improve patient care through advances in personalised medicine. However, there are few clinically relevant examples. AIMS To determine whether patients with a well-established genetic subtype of schizophrenia show a different response profile to the antipsychotic clozapine than those with idiopathic schizophrenia. METHOD We retrospectivel...
Exocytosis of secretory granules (SGs) requires their delivery to the actin-rich cell cortex followed by their attachment to the plasma membrane (PM). How these reactions are executed and coordinated is still unclear. Myrip, which is also known as Slac-2c, binds to the SG-associated GTPase Rab27 and is thought to promote the delivery of SGs to the PM by recruiting the molecular motor myosin Va....
We present a utility accrual real-time scheduling algorithm called CIC-VCUA, for tasks whose execution times are functions of their starting times (and potentially other factors). We model such variable execution times using variable cost functions (or VCFs). The algorithm considers application activities that are subject to time/utility function time constraints, execution times described usin...
Introduction: The techniques used to fixate osteotomized segments of bone have evolved alongside the treatment of craniosynostosis. The use of nonresorbable metal plates and screws offered a method of rigidly stabilizing repositioned segments of bone. Several reports specify the tendency for these fixation systems to "migrate" transcranially. Methods: We present a unique case of a patient who i...
INTRODUCTION There is limited craniofacial literature on the complications of helmet therapy and controversy regarding the effects of inadequate orthotic helmet therapy. The authors present a case of inadvertently prolonged orthotic helmet therapy after endoscopic strip craniectomy for isolated sagittal synostosis. CASE PRESENTATION A two-month-old Caucasian baby underwent uncomplicated endos...
A recurrent point mutation in the fibroblast growth factor receptor 3 (FGFR3) gene that converts proline 250 into arginine is commonly associated with coronal craniosynostosis and has allowed definition of a new syndrome on a molecular basis. Sixty-two patients with sporadic or familial forms of coronal craniosynostosis were investigated for the P250R FGFR3 mutation. It was identified in 20 pro...
Stably stratified turbulence presents particular challenges both from an experimental and a modeling perspective. The damping of the turbulence due to flow stratification and the presence of features such as gravity waves, and Kelvin-Helmholtz instabilities complicate the the application of turbulence similarity theories and the formulation of turbulence models. From an LES perspective, the mai...
OBJECTIVE Methylphenidate (MPH) is commonly used to treat attention-deficit/hyperactivity disorder (ADHD) in all children, including those with velocardiofacial syndrome (VCFS). Yet concerns have been raised regarding its safety and efficacy in VCFS. The goal of this study was to examine the safety and efficacy of MPH in children with VCFS. METHODS Thirty-four children and adolescents with VC...
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